Diagnostic Molecular Pathology

Diagnostic Molecular Pathology: A Guide to Applied Molecular Testing, Second Edition assembles a group of experts to discuss the molecular basis and mechanisms of major human diseases and disease processes and how the molecular features of disease can be harnessed to develop practical molecular tests for disease detection, diagnosis and prognosis. The book explains how molecular tests are utilized in the treatment of patients in personalized medicine, highlights new technologies and approaches of applied molecular pathology, and discusses how this discovery-based research yields new and useful biomarkers and tests. As it is essential to stay up-to-date on new molecular diagnostics in this changing field, this book covers critically important areas in the practice of personalized medicine and reflects our understanding of the pathology, pathogenesis and pathophysiology of human disease. Includes new material on mass spectrometry for infectious diseases, microbiome, homology-directed repair for PARPi, whole genome sequencing for constitutional testing, and much more Provides insights on the value of the molecular test in comparison to traditional methods, which include speed, precision, sensitivity and clinical impacts for the patient Focuses on the menu of molecular diagnostic tests available in modern molecular pathology or clinical laboratories that can be applied to disease detection, diagnosis and classification in the clinical workup of a patient Explains how molecular tests are utilized to guide the treatment of patients in personalized medicine (guided therapies) and for the prognostication of disease

This entirely case-based book covers a broad cross-section of the practical issues frequently encountered in the day-to-day activities of a molecular genetic pathologist. The book is divided into four sections on the principal areas addressed in molecular genetic pathology (MGP): inherited diseases, hematopathology, solid tumors, and infectious diseases. The topics covered by the cases in each section include test selection, qualitative and quantitative laboratory techniques, test interpretation, prognostic and therapeutic considerations, ethical considerations, technical troubleshooting, and result reporting. This book will be ideal for trainees in MGP and clinical molecular genetics who require a practice-based preparation for board examinations. It will also be very useful for residents and fellows in medical specialties to which MGP is pertinent, and for practicing pathologists who want to learn more about the current practice of molecular diagnostics.

This volume in the Foundations in Diagnostic Pathology Series packs today's most essential cell and tissue base molecular pathology into a compact, high-yield format! It focuses on the state of the art in practical validated molecular diagnostics as applied across the fields of surgical pathology and cytology. With an emphasis on current, clinically valid, and diagnostically important applications today and in the near future, you can be assured you’re getting the most up-to-date, authoritative coverage available. Its pragmatic, well-organized approach, nearly 250 full-color illustrations, and at-a-glance boxes and tables make the information you need easy to access. Practical and affordable, this resource is ideal for study and review as well as everyday clinical practice! Offers detailed discussions on today’s technologies to help you select the best test for case evaluation. Presents recognized molecular pathologists who convey the most current information, keeping you on the cusp of your field. Features nearly 250 full-color illustrations that present important pathologic features, enabling you to form a differential diagnosis and compare your findings with actual cases. Uses a consistent, user-friendly format, including at-a-glance boxes and tables for easy reference.

Covering all aspects of molecular pathology as it relates to the transformation and pathogenesis of cancer, this award-winning volume in the Diagnostic Pathology series is an expert resource for pathologists at all levels of experience and training, both as a quick reference and as an efficient review to improve knowledge and skills. This easily accessible, point-of-care reference features templated, bulleted content that is generously illustrated with charts, graphs, tables, and color photomicrographs of histology with special stains. It offers a practical, clinical approach to examining how molecular mutations affect common medical diseases and identifies the relevant and appropriate molecular tests to perform for a complete work-up in the era of molecular-targeted therapies. Provides updated information on molecular mutations in different tumors, including solid tumors and hematopoietic neoplasms, and new targeted therapies geared toward these molecular alterations Discusses now widely used immunotherapy treatments, including how immunotherapy has revolutionized the treatment of many neoplasms such as breast and lung carcinomas and lymphoma Features more than 2,000 annotated images throughout, including H&E stains, immunostains, and FISH images Covers timely topics such as: Recent advances in cancer immunotherapy, specifically in the molecular basis of immunotherapy Newly discovered targeted therapies, including multiple lung carcinoma therapies now considered for patients based on existing mutations to specific genes (KRAS, ALK, BRAF, and ROS) The need for integration of myeloid and lymphoid gene panels due to increased knowledge from next generation sequencing studies of new mutations and the resulting newly developed molecular targets Increased usage of next generation sequencing techniques Changes to hematopoietic tumor details based on revised WHO guidelines Recipient of a 2016 BMA Award: Highly Commended, Pathology (previous edition)

Microbiology and Molecular Diagnosis in Pathology: A Comprehensive Review for Board Preparation, Certification and Clinical Practice reviews all aspects of microbiology and molecular diagnostics essential to successfully passing the American Board of Pathology exam. This review book will also serve as a first resource for residents who want to become familiar with the diagnostic aspects of microbiology and molecular methods, as well as a refresher course for practicing pathologists. Opening chapters discuss issues of laboratory management, including quality control, biosafety, regulations, and proper handling and reporting of laboratory specimens. Review chapters give a quick overview of specific clinical infections as well as different types of bacteria, viruses, fungal infections, and infections caused by parasites. Following these, coverage focuses on diagnostic tools and specific tests: media for clinical microbiology, specific stains and tests for microbial identifications, susceptibility testing and use of antimicrobial agents, tests for detecting antibodies, antigens, and microbial infections. Two final chapters offer overviews on molecular diagnostics principles and methods as well as the application of molecular diagnostics in clinical practice. Takes a practical and easy-to-read approach to understanding microbiology at an appropriate level for both board preparation as well as a professional refresher course Covers all important clinical information found in larger textbooks in a more succinct and easy-to-understand manner Covers essential concepts in microbiology in such a way that residents, fellows, and clinicians understand the methods and tests without having to become specialists in the field Offers a quick overview of specific clinical infections as well as different types of bacteria, viruses, fungal infections, and infections caused by parasites

This authoritative textbook embodies the current standard in molecular testing for practicing pathologists, and residents and fellows in training. The text is organized into eight sections: genetics, inherited cancers, infectious disease, neoplastic hematopathology, solid tumors, HLA typing, identity testing, and laboratory management. Discussion of each diagnostic test includes its clinical significance, available assays, quality control and lab issues, interpretation, and reasons for testing. Coverage extends to HIV, hepatitis, developmental disorders, bioterrorism, warfare organisms, lymphomas, breast cancer and melanoma, forensics, parentage, and much more. Includes 189 illustrations, 45 in full-color. This textbook is a classic in the making and a must-have reference.

This practical guide provides information essential to understanding the significance of molecular biology and its application to everyday practice. Coverage focuses on the spectrum of currently used molecular tests in the areas of hematopathology, solid tumors, genetics, and identify testing. Examples of both molecular and cytogenetic assays demonstrate how these tests are used in today's pathology labs to detect a wide range of infectious diseases and inherited and metabolic conditions.

This book is a review and high-yield reference on the clinical molecular diagnostics of malignant neoplasms. It aims to address the practical questions frequently encountered in the molecular oncology practice, as well as key points and pitfalls in the clinical interpretation of molecular tests in guiding precision cancer management. The text uses a Q&A format and case presentations, with emphasis on understanding the molecular test methods, diagnosis, classification, risk assessment and clinical correlation. Starting with an update on the molecular biology of cancer, the book focuses on the topics related to molecular diagnostics and genetics-based precision oncology. Separate chapters are dedicated to discussion of the bioinformatics for the analysis of genetic/genomic data generated from molecular assays, and quality control (QC)/quality assurance (QA) programs in the clinical laboratories; both are critical in producing high quality results for clinical care of cancer patients. These are followed by organ system-based reviews and discussions on the molecular genetic abnormalities and related tests covering diverse types of common to rare malignant neoplasms. This book also provides up-to-date knowledge related to malignant neoplasms, discusses the established as well as evolving requirements for pathologic diagnosis of these malignancies. It also discusses the cost effective utilization of molecular tests in clinical oncology. Written by experts in the field, Practical Oncologic Molecular Pathology serves as a valuable reference for practicing pathologists, fellows, residents and other health care professionals.